Success of referral to genetic counseling after positive lynch syndrome screening test

Success of referral to genetic counseling after positive lynch syndrome screening test Purpose Lynch syndrome (LS) is a hereditary condition MSH2, MLH1, MSH6, and PMS2 was performed on all co- that increases one’s risk of developing colorectal, endo- lorectal tumor resections from patients ≤70 years old and all metrial, and other extracolonic cancers. MD Anderson stage II cancers. Tumors with loss of MLH1/PMS2 were sub- Cancer Center at Cooper implemented a reflex screening sequently tested for BRAF mutation or MLH1 promoter meth- protocol for DNA mismatch repair (dMMR) deficiency. ylation to identify tumors with likely epigenetic inactivation Those with findings suspicious for LS were referred for of MLH1. Patients with loss of MLH1/PMS2 without BRAF genetic counseling (GC). Our goal was to assess compli- mutations or with absence of MLH1 promoter methylation ance with GC and factors associated with successful and those with loss of MSH2/MSH6 were referred to GC. follow-up. Compliance with GC was assessed. Results Between March 2014 and August 2016, 203 tumors were tested by IHC. Fifteen (7.4%) patients had abnormal MMR protein expression patterns in the absence of BRAF mutation or MLH1 promoter methylation suggestive of possi- * Robin F. Irons irons-robin@cooperhealth.edu ble LS. GC compliance was 35.7% overall and 85.7% in those with family history of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png International Journal of Colorectal Disease Springer Journals

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Publisher
Springer Berlin Heidelberg
Copyright
Copyright © 2017 by Springer-Verlag GmbH Germany
Subject
Medicine & Public Health; Surgery; Internal Medicine; Gastroenterology; Hepatology; Proctology
ISSN
0179-1958
eISSN
1432-1262
D.O.I.
10.1007/s00384-017-2849-x
Publisher site
See Article on Publisher Site

Abstract

Purpose Lynch syndrome (LS) is a hereditary condition MSH2, MLH1, MSH6, and PMS2 was performed on all co- that increases one’s risk of developing colorectal, endo- lorectal tumor resections from patients ≤70 years old and all metrial, and other extracolonic cancers. MD Anderson stage II cancers. Tumors with loss of MLH1/PMS2 were sub- Cancer Center at Cooper implemented a reflex screening sequently tested for BRAF mutation or MLH1 promoter meth- protocol for DNA mismatch repair (dMMR) deficiency. ylation to identify tumors with likely epigenetic inactivation Those with findings suspicious for LS were referred for of MLH1. Patients with loss of MLH1/PMS2 without BRAF genetic counseling (GC). Our goal was to assess compli- mutations or with absence of MLH1 promoter methylation ance with GC and factors associated with successful and those with loss of MSH2/MSH6 were referred to GC. follow-up. Compliance with GC was assessed. Results Between March 2014 and August 2016, 203 tumors were tested by IHC. Fifteen (7.4%) patients had abnormal MMR protein expression patterns in the absence of BRAF mutation or MLH1 promoter methylation suggestive of possi- * Robin F. Irons irons-robin@cooperhealth.edu ble LS. GC compliance was 35.7% overall and 85.7% in those with family history of

Journal

International Journal of Colorectal DiseaseSpringer Journals

Published: Jun 29, 2017

References

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